Basic Tools to Begin Integrating Genetics and Genomics into Medical Practice

Question 1

What is the difference between genetics and genomics?

Answer 1

Genetics - the study of genes and their role in inheritance (i.e. a certain gene causes a pathology)

Genomics - the study of all an individual’s genes, including how these genes interact with the environment

Question 2

What is the number one diagnostic tool for genomic disease? How often should it be updated?

Answer 2

Family history, there should be frequent, periodic re-evaluation

Question 3

How does family history interplay with testing?

Answer 3

Helps identify people who are at an increased risk for specific disorders who may be the best candidates for testing

Question 4

Why is early identification of a genetic predisposition important via family history?

Answer 4

Can help improve, delay, or prevent adverse outcome

Question 5

In what order are siblings listed on a pedigree?

Answer 5

Left to right: oldest to youngest

Question 6

Who is considered the consultant for a pedigree and how are they indicated?

Answer 6

Person providing the information -> designated by the arrow

Question 7

Who is the proband?

Answer 7

The affected person who brought the family to medical attention, designated by a shaded symbol

Question 8

How many generations should be collected for a pedigree?

Answer 8

At least 3

Question 9

What is considered a first, second, and third degree relative? How many shared genes do they have?

Answer 9

First degree: Within 1 generation up or down: 50%, i.e. siblings, parents

Second degree: Within two: 25% - i.e. uncles, grandparents

Third degree: Within three: 12.5% - i.e. cousins

Question 10

How related is a half brother or sister?

Answer 10

Second degree relative: 25% shared genes

Question 11

Why is age at diagnosis relevant?

Answer 11

Younger = genetic cause of disease more likely

Question 12

What is consanguinity?

Answer 12

Parents are related via blood (1st or 2nd cousins)

Question 13

What is a targeted vs a general question?

Answer 13

General: Asking about a cause of death, ethnic background, etc

Targeted: If investigating diabetes, asking about risk factors in patients (i.e. high cholesterol, smoker, HTN)

Question 14

How many pregnancy losses is considered a “red flag”?

Answer 14

3 or more by an individual or couple

Question 15

What are some red flags for an individual having a genetic disorder?

Answer 15

1. Dysmorphic features
2. Developmental or learning delay
3. Movement disorders / seizures
4. Congenital blindness / deafness
5. Short stature
6. Unexplained infertility
7. MULTIPLE MEDICAL PROBLEMS THAT SEEM UNRELATED

Question 16

What is a clinical geneticist?

Answer 16

Board certified physician who provides diagnostic, management, treatment, risk assessment, and genetic counseling.

Question 17

What is a genetic counselor?

Answer 17

Master’s program health professional who assists people in understanding and adapting to their familial genetic disease

Question 18

What is a clinical genetics laboratory specialist?

Answer 18

I.e. cytogeneticist, molecular geneticist, they are PhD, MD, or DO and provide genetic testing for a variety of conditions in a lab

Question 19

What is a medical biochemical geneticist?

Answer 19

Physicians who specialize in treatment of patients with inborn errors of metabolism

Question 20

What are some examples of single gene / chromosomal, major gene multifactorial, and complex multifactorial genetic diseases?

Answer 20

Single gene - Down’s syndrome

Major gene multifactorial - Hypercholesteremia

Complex multifactorial - Diabetes T2

Question 21

Is it important for physicians to know why ethnic groups are more susceptible to genetic disease, as well as the social, legal, and ethical issues around it?

Answer 21

Yes